Linked Data
ClinVar Variation Id:
316391
ClinVar RCV Id:
RCV000282551
RCV000286081
RCV000331838
RCV000335275
RCV000339135
RCV000373450
RCV000393946
RCV000467366
RCV000421497
RCV001579785
RCV002278422
dbSNP Id:
rs375721252
ExAC:
15:48888476 T / C
gnomAD v2:
15-48888476-T-C
gnomAD v3:
15-48596279-T-C
gnomAD v4:
15-48596279-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48596279T>C , CM000677.2:g.48596279T>C | GRCh38 |
| NC_000015.9:g.48888476T>C , CM000677.1:g.48888476T>C | GRCh37 |
| NC_000015.8:g.46675768T>C | NCBI36 |
| NG_008805.2:g.54510A>G , LRG_778:g.54510A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.538+4A>G | ENSP00000453958.2:n.538+4A>G | |
| ENST00000674301.2:c.538+4A>G | ENSP00000501333.2:n.538+4A>G | |
| ENST00000316623.10:c.538+4A>G MANE Select | ENSP00000325527.5:n.538+4A>G | |
| ENST00000316623.9:c.538+4A>G | ENSP00000325527.5:n.538+4A>G | |
| ENST00000537463.6:c.538+4A>G | ENSP00000440294.2:n.538+4A>G | |
| NM_000138.4:c.538+4A>G , LRG_778t1:c.538+4A>G | NP_000129.3:n.538+4A>G | |
| NM_000138.5:c.538+4A>G MANE Select | NP_000129.3:n.538+4A>G |